Varaico: Literature-Extracted Genetic Variants

STAT1

1,286 papers

RefSeq Summary

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and the...

Pfam Domains

STAT_intaa 2–120UCSCSTAT protein, protein interaction domain

STAT_alphaaa 143–309UCSCSTAT transcription factor, coiled-coil domain

STAT_bindaa 321–458UCSCSTAT protein, DNA binding domain

STAT_linkeraa 480–558UCSCSignal transducer and activator of transcription, linker domain

SH2aa 573–651UCSCSH2 domain

STAT1_TAZ2bindaa 715–739UCSCSTAT1 TAZ2 binding domain

Gene Aliases

HGNC Name

signal transducer and activator of transcription 1

HGNC Alias Symbols

STAT91; ISGF-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007315.4

p.K336M

c.1007A>T

Surrounding Variants

1 paper

NM_007315.4

p.K336*

c.1006A>T

3 papers

NM_007315.4

p.K336E

c.1006A>G

1 paper

NM_007315.4

p.K336Q

c.1006A>C

1 paper

NM_007315.4

p.G338R

c.1012G>C

1 paper

NM_007315.4

p.G338R

c.1012G>A

1 paper

NM_007315.4

p.G338V

c.1013G>T

1 paper

NM_007315.4

p.G338E

c.1013G>A

5 papers

NM_007315.4

p.T337_G338delFs

c.1011_1012delCT

1 paper

NM_007315.4

p.V334I

c.1000G>A

1 paper

NM_007315.4

p.V339F

c.1015G>T

1 paper

NM_007315.4

p.V339fs

c.1015_1016fs

1 paper

NM_007315.4

p.Q340R

c.1019A>G